Combinations of β chain abnormal hemoglobins with each other or with β-thalassemia determinants with known mutations: influence on phenotype

Abstract

AbstractHematological and hemoglobin (Hb) data are presented for numerous patients with compound heterozygosities for different β chain variants and for a β chain variant with different β-thalassemia (β-thal) alleles. Considerable variations, which result from the type of β chain variant and β-thal mutation, can be noted. The comparison again emphasizes the importance of determining the diagnoses at the molecular level to aid the physician in the management of patients with different combinations of abnormalities. Simplification and commercialization of modern technology may make the introduction of this approach in some clinical chemistry laboratories possible.